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Simonati, Alessandro
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1

Long-term outcome of a cohort of Italian patients affected ..:

Bertolini, Anna ; Rigoldi, Miriam ; Cianflone, Annalia...
Clinical Dysmorphology.  33 (2023)  1 - p. 1-8 , 2023
Link: https://doi.org/10.1097/..
 
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Enhanced expression of the autophagosomal marker LC3-II in ..:

Pezzini, Francesco ; Fiorini, Michele ; Doccini, Stefano...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1869 (2023)  6 - p. 166756 , 2023
Link: https://doi.org/10.1016/..
 
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3

Risk of psychosis in autism spectrum disorder individuals e..:

Bortoletto, Riccardo ; Bassani, Lorenzo ; Garzitto, Marco...
Autism Research.  16 (2023)  11 - p. 2139-2149 , 2023
Link: https://doi.org/10.1002/..
 
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Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach t..:

Simonati, Alessandro ; Williams, Ruth E.
Frontiers in Neurology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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5

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Synd..:

Vaisfeld, Alessandro ; Taormina, Sara ; Simonati, Alessandro.
Genes.  13 (2022)  10 - p. 1792 , 2022
Link: https://doi.org/10.3390/..
 
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6

Integrative Organelle-Based Functional Proteomics: In Silic..:

Morani, Federica ; Doccini, Stefano ; Galatolo, Daniele...
Biomolecules.  12 (2022)  8 - p. 1024 , 2022
Link: https://doi.org/10.3390/..
 
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7

Editorial: Neuronal ceroid lipofuscinosis: A multidisciplin..:

Simonati, Alessandro ; Williams, Ruth Elizabeth ; Schulz, Angela
Frontiers in Neurology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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8

Lysosomal Proteomics Links Disturbances in Lipid Homeostasi..:

Doccini, Stefano ; Marchese, Maria ; Morani, Federica...
Cells.  11 (2022)  11 - p. 1840 , 2022
Link: https://doi.org/10.3390/..
 
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9

Guidelines on the diagnosis, clinical assessments, treatmen..:

Mole, Sara E. ; Schulz, Angela ; Badoe, Eben...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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10

ATP1A2- and ATP1A3-associated early profound epileptic ence..:

Vetro, Annalisa ; Nielsen, Hang N ; Holm, Rikke...
Brain.  144 (2021)  5 - p. 1435-1450 , 2021
Link: https://doi.org/10.1093/..
 
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11

Management of CLN1 Disease: International Clinical Consensu:

Augustine, Erika F. ; Adams, Heather R. ; de los Reyes, Emily...
Pediatric Neurology.  120 (2021)  - p. 38-51 , 2021
Link: https://doi.org/10.1016/..
 
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12

Enzymatic diagnosis of neuronal lipofuscinoses in dried blo..:

Maeser, Stefan ; Petre, Brindusa‐Alina ; Ion, Laura...
Journal of Mass Spectrometry.  56 (2020)  1 - p. , 2020
Link: https://doi.org/10.1002/..
 
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13

Electrophysiological Profile Remodeling via Selective Suppr..:

Demontis, Gian Carlo ; Pezzini, Francesco ; Margari, Elisa...
Frontiers in Cellular Neuroscience.  14 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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14

Proteomic and functional analyses in disease models reveal ..:

Doccini, Stefano ; Morani, Federica ; Nesti, Claudia...
Cell Death Discovery.  6 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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15

A novel IRF2BPL truncating variant is associated with endol..:

Ginevrino, Monia ; Battini, Roberta ; Nuovo, Sara...
Molecular Biology Reports.  47 (2019)  1 - p. 711-714 , 2019
Link: https://doi.org/10.1007/..
 
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